Introduction: Hematological abnormalities are common in children with down syndrome (DS), mainly during childhood.
Areas Covered: DS newborns can develop hematological benign conditions that resolve spontaneously within 1 -2 months. However, about 10% of them can present transient abnormal myelopoiesis (TAM), characterized by the presence of circulating blasts. About 80% of DS neonates with TAM undergo spontaneous resolution of both clinical and laboratory abnormalities within 3-6 months after birth. However, some newborns with TAM may develop acute myeloid leukemia associated with DS (ML-DS), usually after an interval without signs of leukemia. mutations are stable molecular markers that may monitor the presence of minimal residual disease (MRD) after TAM resolution. Moreover, DS children have a 10-20-fold increased risk of developing acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). The predisposition to develop leukemia occurs both in children with complete trisomy 21 and in those with mosaic trisomy, suggesting an important role of chromosome 21 in leukemogenesis.
Expert Opinion: In contrast to the excellent prognosis of ML-DS obtained likewise with low doses of chemotherapy, DS-ALL patients show worse outcomes than non-DS children, therefore advances and risk-stratified treatment adjustments are mandatory for this particular set of patients.
Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare neurological disorder, affecting approximately 0.18 per million individuals annually. It presents with a triad of opsoclonus, myoclonus, and ataxia, often including cognitive dysfunction and behavioral disturbances.
In this article, we present a case study of a five-year-old girl with autism and developmental delay, conducted at the Academic Center for Autism Research in Bratislava, Slovakia. The girl was diagnosed using Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) and Autism Diagnostic Interview-Revised (ADI-R) instruments and met the criteria for autism spectrum disorder. Intellectual functioning was in the markedly below-average range, as indicated by the Snijders-Oomen Nonverbal Intelligence Test-Revised (SON-R) examination, and her level of adaptive functioning was significantly reduced.
Background: Neuroleptic malignant syndrome (NMS) is a rare but potentially life-threatening adverse drug reaction. This study aims to identify the most prevalent drugs associated with the risk of NMS according to the United States Food and Drug Administration (FDA) Adverse Event Reporting System (FAERS) database.
Methods: Analyses were performed using data from the FAERS database from January 2004 to June 2024.
Unlabelled: Recently, there has been a debate regarding the association between polycystic ovary syndrome (PCOS) and pancreatic cancer (PC). In order to examine the causal relationship between PCOS and PC, we conducted a Mendelian randomization study, which utilized 12 single nucleotide polymorphisms (SNPs) identified from a genome-wide association study (GWAS) meta-analysis that included 10,074 PCOS cases and 103,164 controls of European ancestry as instrumental variables (IVs). The outcome data were obtained from the FinnGen database (including 605 cases and 218,187 controls).
The metabolic syndrome, made up of the sum of the entities that define it (obesity, hypertension, dyslipidemias and non-alcoholic hepatic steatosis) has gained an important place in the research of the last decades. This aspect is mainly due to the complexity of management in pediatric practice. The main directions in his approach therefore bring together the concern of counteracting the noise or systemic, of the multiple intercurrents at the physiopathological level, as well as the negative imprint exerted on the quality of life.
